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Amiri M, Kuech EM, Shammas H, et al. The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease. JIMD Rep. 2015;25:25-29doi: 10.1007/8904_2015_454.
Amiri, M., Kuech, E. M., Shammas, H., Wetzel, G., & Naim, H. Y. (2016). The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease. JIMD reports, 2525-29. https://doi.org/10.1007/8904_2015_454
Amiri, Mahdi, et al. "The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease." JIMD reports vol. 25 (2016): 25-29. doi: https://doi.org/10.1007/8904_2015_454
Amiri M, Kuech EM, Shammas H, Wetzel G, Naim HY. The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease. JIMD Rep. 2016;25:25-29. doi: 10.1007/8904_2015_454. Epub 2015 Jun 30. PMID: 26122626; PMCID: PMC5059181.
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JIMD Rep. 2016;25:25-29. doi: 10.1007/8904_2015_454. Epub 2015 Jun 30.

The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease.

JIMD reports

Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, Gabi Wetzel, Hassan Y Naim

Affiliations

  1. Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
  2. Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany. [email protected].

PMID: 26122626 PMCID: PMC5059181 DOI: 10.1007/8904_2015_454

Abstract

The molecular basis of gastrointestinal intolerances in a severe case of Niemann-Pick type C disease was analyzed in an intestinal biopsy specimen. The enzyme activities of intestinal sucrase-isomaltase and maltase-glucoamylase are reduced in the patient, while that of lactase is comparable to the control. The association of SI with lipid rafts is reduced in the patient's biopsy as a consequence of altered composition of membrane microdomains. As association with lipid rafts influences the intracellular transport and the enzyme activities of sucrase-isomaltase and maltase-glucoamylase, these data explain reduced carbohydrate digestion in the intestinal lumen and delineate the effect of deficient cholesterol and sphingolipid homeostasis in development of gastrointestinal symptoms in NPC patients.

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